Background: T-cell prolymphocytic leukemia (T-PLL), formerly categorized as T-cell chronic lymphocytic leukemia, is a rare and aggressive hematologic malignancy. Although the skin is characteristically involved, it is...Background: T-cell prolymphocytic leukemia (T-PLL), formerly categorized as T-cell chronic lymphocytic leukemia, is a rare and aggressive hematologic malignancy. Although the skin is characteristically involved, it is not a well-recognized entity in the dermatologic literature. Methods: Six cases of cutaneous T-PLL are presented from a clinical, light microscopic, and phenotypic perspective. Results: The patient population comprised 2 women and 4 men, with a mean age of 69.8 years. The disease was associated in all with skin involvement with facial preference; edema, purpura, and lesional symmetry were characteristic. The skin biopsies demonstrated a largely non-epidermotropic angiocentric lymphocytic infiltrate with accompanying hemorrhage. The cells showed irregular-to reniform-shaped nuclei with small nucleoli and eosinophilic rims of cytoplasm. Phenotypic studies revealed three prevailing profiles: CD4 dominant in 4, CD8 dominant in one, and co-expression of CD4 and CD8 in one. CD3 loss was seen in one case. All expressed T-cell leukemia 1 (TCL-1) and CD7; cutaneous lymphocyte antigen expression was discernible in a dot-like perinuclear array. All cases tested excluding one expressed TCL-1 and CD52. In two cases tested, T-cell receptor beta rearrangements were observed. Cytogenetic studies demonstrated a paracentromeric chromosome 14 inversion. Polysomy 8 and MYC amplification was seen in one case, manifesting an aggressive clinical course. Four patients died from their disease within 18 months of diagnosis. Limitations: Cytogenetic MYC amplification, FISH, and TCR beta studies were conducted on each of 2 cases, respectively, due to limitations of tissue block samples and/or peripheral blood. cMYC translocation studies were conducted on 3 of the 6 cases, again due to limitations imposed by the tissue samples on the cases. The last case was recently diagnosed and, therefore, long-term follow-up is not possible. Conclusion: T-PLL is a distinctive post thymic T-cell malignancy with frequent cutaneous tropism. A 展开更多
Mycobacterium bovis Bacillus Calmette-Guerin (BCG) is an attenuated live vaccine that may cause life-threatening clinical disease in children with impaired immunity. In particular, patients with any of the nine known ...Mycobacterium bovis Bacillus Calmette-Guerin (BCG) is an attenuated live vaccine that may cause life-threatening clinical disease in children with impaired immunity. In particular, patients with any of the nine known inherited disorders of the interleukin-12/23 interferon-γ (IL-12/23-IFNγ ) axis are highly vulnerable to BCG. We describe two unrelated young Slovakian children suffering from disseminated BCG infection which developed shortly after routine BCG vaccination after birth. During treatment with selected anti-BCG antibiotics, resistance against several of these drugs developed. In both children, interleukin-12/23 receptor β 1 (IL-12/23Rβ 1) deficiency was diagnosed. Thus, in addition to chemotherapy, immunomodulatory treatment with recombinant IFN-γ was performed as the pathogenesis of BCG disease in IL-12Rβ 1 deficiency involves impaired IL-12-and IL-23-dependent IFN-γ production by lymphocytes. One child responded to treatment and is presently doing well whereas the second patient died. Conclusion: The marked variability of outcome of disseminated Bacillus Calmette-Guerin disease in interleukin-12/23 receptor β 1-deficient children sharing the same ethnic origin and exposed to a similar environment as presented in these case reports has to be taken into consideration for diagnosis and treatment of infections due to this genetic defect.展开更多
Background: Epithelioid sarcoma is a rare mesenchymal neoplasm of unknown histogenesis, Data on genome-wide surveys for chromosomal aberrations in epithelioid sarcoma are limited. Objectives: To investigate genetic ab...Background: Epithelioid sarcoma is a rare mesenchymal neoplasm of unknown histogenesis, Data on genome-wide surveys for chromosomal aberrations in epithelioid sarcoma are limited. Objectives: To investigate genetic aberrations in epithelioid sarcoma. Methods: We analysed seven cases of epithelioid sarcoma (classic type, three cases and proximal type, four cases) by comparative genomic hybridization (CGH), and correlated findings with the results of additional immunohistochemical study. Results and conclusions: CGH analysis showed DNA copy number changes at one to five different genomic sites in six of seven cases (86%). The majority of the changes were gains. The most frequent gain was at 22q (six cases). Other recurrent changes include gains of 12q 24-qter (four cases), 17 (four cases), and 5q32-qter (three cases). High-level homology was seen in chromosomal aberration in both types. In addition, expression of interleukin-2 receptorβ, located in 22q, was re-vealed by immunohistochemical method in six cases with gain of 22q, suggesting it may play a role in epithelioid sarcoma tumorigenesis.展开更多
文摘Background: T-cell prolymphocytic leukemia (T-PLL), formerly categorized as T-cell chronic lymphocytic leukemia, is a rare and aggressive hematologic malignancy. Although the skin is characteristically involved, it is not a well-recognized entity in the dermatologic literature. Methods: Six cases of cutaneous T-PLL are presented from a clinical, light microscopic, and phenotypic perspective. Results: The patient population comprised 2 women and 4 men, with a mean age of 69.8 years. The disease was associated in all with skin involvement with facial preference; edema, purpura, and lesional symmetry were characteristic. The skin biopsies demonstrated a largely non-epidermotropic angiocentric lymphocytic infiltrate with accompanying hemorrhage. The cells showed irregular-to reniform-shaped nuclei with small nucleoli and eosinophilic rims of cytoplasm. Phenotypic studies revealed three prevailing profiles: CD4 dominant in 4, CD8 dominant in one, and co-expression of CD4 and CD8 in one. CD3 loss was seen in one case. All expressed T-cell leukemia 1 (TCL-1) and CD7; cutaneous lymphocyte antigen expression was discernible in a dot-like perinuclear array. All cases tested excluding one expressed TCL-1 and CD52. In two cases tested, T-cell receptor beta rearrangements were observed. Cytogenetic studies demonstrated a paracentromeric chromosome 14 inversion. Polysomy 8 and MYC amplification was seen in one case, manifesting an aggressive clinical course. Four patients died from their disease within 18 months of diagnosis. Limitations: Cytogenetic MYC amplification, FISH, and TCR beta studies were conducted on each of 2 cases, respectively, due to limitations of tissue block samples and/or peripheral blood. cMYC translocation studies were conducted on 3 of the 6 cases, again due to limitations imposed by the tissue samples on the cases. The last case was recently diagnosed and, therefore, long-term follow-up is not possible. Conclusion: T-PLL is a distinctive post thymic T-cell malignancy with frequent cutaneous tropism. A
文摘Mycobacterium bovis Bacillus Calmette-Guerin (BCG) is an attenuated live vaccine that may cause life-threatening clinical disease in children with impaired immunity. In particular, patients with any of the nine known inherited disorders of the interleukin-12/23 interferon-γ (IL-12/23-IFNγ ) axis are highly vulnerable to BCG. We describe two unrelated young Slovakian children suffering from disseminated BCG infection which developed shortly after routine BCG vaccination after birth. During treatment with selected anti-BCG antibiotics, resistance against several of these drugs developed. In both children, interleukin-12/23 receptor β 1 (IL-12/23Rβ 1) deficiency was diagnosed. Thus, in addition to chemotherapy, immunomodulatory treatment with recombinant IFN-γ was performed as the pathogenesis of BCG disease in IL-12Rβ 1 deficiency involves impaired IL-12-and IL-23-dependent IFN-γ production by lymphocytes. One child responded to treatment and is presently doing well whereas the second patient died. Conclusion: The marked variability of outcome of disseminated Bacillus Calmette-Guerin disease in interleukin-12/23 receptor β 1-deficient children sharing the same ethnic origin and exposed to a similar environment as presented in these case reports has to be taken into consideration for diagnosis and treatment of infections due to this genetic defect.
文摘Background: Epithelioid sarcoma is a rare mesenchymal neoplasm of unknown histogenesis, Data on genome-wide surveys for chromosomal aberrations in epithelioid sarcoma are limited. Objectives: To investigate genetic aberrations in epithelioid sarcoma. Methods: We analysed seven cases of epithelioid sarcoma (classic type, three cases and proximal type, four cases) by comparative genomic hybridization (CGH), and correlated findings with the results of additional immunohistochemical study. Results and conclusions: CGH analysis showed DNA copy number changes at one to five different genomic sites in six of seven cases (86%). The majority of the changes were gains. The most frequent gain was at 22q (six cases). Other recurrent changes include gains of 12q 24-qter (four cases), 17 (four cases), and 5q32-qter (three cases). High-level homology was seen in chromosomal aberration in both types. In addition, expression of interleukin-2 receptorβ, located in 22q, was re-vealed by immunohistochemical method in six cases with gain of 22q, suggesting it may play a role in epithelioid sarcoma tumorigenesis.
基金supported by the National Natural Science Foundation of China(81073074,30472200)the fund for talents from the abroad in Hebei Province,P.R.China(200828)
